Purpose/aim: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with STXBP1 related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet.
Case report: A 6-year-old girl who had EDS presented with refractory seizures and worsening cognitive functions. Her sleep electroencephalography (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES). The epileptic encephalopathy panel revealed a de novo c.560C > T (p.pro187Leu) heterozygous mutation in the STXPB1 gene. Ketogenic diet treatment was started for her refractory seizures and seizures stopped in the third month of the 3:1 classical ketogenic diet.
Conclusion: Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in STXBP1-related epileptic encephalopathy and ESES.
Keywords: Ehlers-Danlos Syndrome; STXBP1-related epileptic encephalopathy; electrical status epilepticus during slow-wave sleep (ESES); ketogenic diet.